靶标:
BFSP1
产品别名:
CP115; CP94; CTRCT33; LIFL-H; BFSP1; beaded filament structural protein 1; beaded filament structural protein 1; filensin; beaded filament structural protein 1, filensin; cytoskeletal protein, 115 KD; lens fiber cell beaded-filament structural protein CP 115; lens intermediate filament-like heavy; 串珠状纤维结构蛋白1; 珠丝结构蛋白1(BFSP1);
背景信息:
This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013],